Tag: Genetic Factors

  • Ohio Type Amyloidosis (Type VII)

    Ohio Type Amyloidosis (Type VII): Definition and Description of Ohio Type Amyloidosis (Type VII): Ohio Type Amyloidosis, also referred to as Type VII, is a rare form of amyloidosis characterized by the deposition of amyloid protein in various tissues and organs within the body, leading to impairment of normal function. It is part of a…

  • Motor Neuron Disease

    Motor Neuron Disease: Definition and Description of Motor Neuron Disease: Motor Neuron Disease (MND) is a group of neurodegenerative conditions that affect the motor neurons in the brain and spinal cord. These neurons are responsible for controlling voluntary muscle movement, and when they degenerate, it leads to muscle weakness, impaired control, and eventually paralysis. The…

  • Langerhans Cell Histiocytosis

    Langerhans Cell Histiocytosis Definition and Description of Langerhans Cell Histiocytosis Langerhans Cell Histiocytosis (LCH) is a rare type of disorder characterized by an excess of Langerhans cells, which are a type of dendritic cell responsible for immune system function. These cells can accumulate in various tissues, leading to inflammation and damage in affected organs. LCH…

  • Infantile Myoclonic Encephalopathy

    Infantile Myoclonic Encephalopathy Definition and Description of Infantile Myoclonic Encephalopathy Infantile Myoclonic Encephalopathy (IME) is a rare and serious neurological disorder that primarily affects infants and young children. It is characterized by recurring myoclonic jerks, which are sudden, involuntary muscle spasms. These jerks can involve the arms, legs, and face, leading to significant developmental delays…

  • Human Cyclic Neutropenia

    Human Cyclic Neutropenia Definition and Description of Human Cyclic Neutropenia Human Cyclic Neutropenia is a rare blood disorder characterized by recurrent episodes of low neutrophil counts, which are crucial components of the immune system. This condition typically manifests in cycles, with neutrophil levels dropping to significantly low levels over a period of approximately 21 days,…

  • Fibrous Plaques of the Penis

    Fibrous Plaques of the Penis Definition and Description of Fibrous Plaques of the Penis Fibrous plaques of the penis, commonly associated with a condition known as Peyronie’s disease, refer to the development of fibrous scar tissue (plaques) in the penis. This condition may cause painful erections, curvature of the penis during erection, and hindrances in…

  • Ewing’s Family of Tumors

    Ewing’s Family of Tumors Definition and Description of Ewing’s Family of Tumors Ewing’s Family of Tumors (EFT) refers to a group of rare and aggressive tumors that primarily affect the bones or the soft tissue surrounding them. These tumors are most common in adolescents and young adults, typically between the ages of 10 and 20.…

  • Eczema, Atopic

    Eczema, Atopic Definition and Description of Eczema, Atopic Eczema, Atopic, also known as atopic dermatitis, is a chronic inflammatory skin condition characterized by red, itchy, and inflamed skin. Medical experts define it as a multifaceted disorder involving a combination of genetic, environmental, and immunological factors. The skin barrier becomes compromised, leading to increased sensitivity and…

  • Clubfoot

    Clubfoot Definition and Description of Clubfoot Clubfoot, medically known as congenital talipes equinovarus (CTEV), is a birth defect characterized by a twisted foot and ankle position. In affected individuals, the foot appears to be rotated inwards and downwards. The condition may affect one or both feet and can range in severity from a mild deformity…

  • CHH

    CHH Definition and Description of CHH Congenital Hypogonadotropic Hypogonadism (CHH) is a rare medical condition characterized by the insufficient production of sex hormones due to a deficiency in gonadotropin-releasing hormone (GnRH). This condition affects sexual development and reproductive function. CHH can manifest both in males and females, resulting in delayed puberty, infertility, and impaired sexual…